Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-159682233-C-T | CRP | c.*1082G>A | - | 3-UTRSNV | 2/2 | - |
19-11205975-G-A | LDLR | c.68-4924G>A | - | IntronicSNV | - | 1/17 |
19-11205975-G-C | LDLR | c.68-4924G>C | - | IntronicSNV | - | 1/17 |
18-60054857-A-C | TNFRSF11A | c.*2590A>C | - | 3-UTRSNV | 10/10 | - |
18-60054857-A-T | TNFRSF11A | c.*2590A>T | - | 3-UTRSNV | 10/10 | - |
1-154381103-A-G | IL6R | c.85+2913A>G | - | IntronicSNV | - | 1/9 |
12-121423956-C-T | HNF1A | c.327-2680C>T | - | IntronicSNV | - | 1/9 |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
10-65133822-A-G | JMJD1C | c.333+6256T>C | - | IntronicSNV | - | 2/25 |
2-169870295-C-A | ABCB11 | c.151-275G>T | - | IntronicSNV | - | 4/27 |
2-169870295-C-T | ABCB11 | c.151-275G>A | - | IntronicSNV | - | 4/27 |
7-116437606-G-A | MET | c.*1428G>A | - | 3-UTRSNV | 21/21 | - |
7-116437606-G-C | MET | c.*1428G>C | - | 3-UTRSNV | 21/21 | - |
11-5701074-C-A | TRIM5 | c.334G>T | p.V112F | Missense | 2/8 | - |
1-159683438-C-A | CRP | c.552G>T | p.L184= | Synonymous | 2/2 | - |
1-159683438-C-G | CRP | c.552G>C | p.L184= | Synonymous | 2/2 | - |
1-159683438-C-T | CRP | c.552G>A | p.L184= | Synonymous | 2/2 | - |
9-107589255-C-T | ABCA1 | c.2311G>A | p.V771M | Missense | 16/50 | - |
8-19819724-C-G | LPL | c.1421C>A | p.S474* | Nonsense | 9/10 | - |
17-26694861-G-A | VTN | c.1199C>T | p.T400M | Missense | 7/8 | - |
16-57007353-C-T | CETP | c.861C>T | p.F287= | Synonymous | 9/16 | - |
12-121416650-A-C | HNF1A | c.79A>C | p.I27L | Missense | 1/10 | - |
2-21263900-G-A | APOB | c.293C>T | p.T98I | Missense | 4/29 | - |
1-21890632-G-A | ALPL | c.571G>A | p.E191K | Missense | 6/12 | - |
19-8429323-G-A | ANGPTL4 | c.118G>A | p.E40K | Missense | 1/7 | - |
6-160543148-C-T | SLC22A1 | c.181C>T | p.R61C | Missense | 1/11 | - |
8-19813529-A-G | LPL | c.953A>G | p.N318S | Missense | 6/10 | - |
1-66102257-G-A | LEPR | c.3057G>A | p.P1019= | Synonymous | 20/20 | - |
2-21225281-C-T | APOB | c.13013G>A | p.S4338N | Missense | 29/29 | - |
2-21233972-T-C | APOB | c.5768A>G | p.H1923R | Missense | 26/29 | - |
16-81534790-T-C | CMIP | c.300+55644T>C | - | IntronicSNV | - | 1/20 |
16-81534790-T-A | CMIP | c.300+55644T>A | - | IntronicSNV | - | 1/20 |
1-154414086-A-G | IL6R | c.949+5500A>G | - | IntronicSNV | - | 6/9 |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
12-121420807-G-A | HNF1A | c.326+3910G>A | - | IntronicSNV | - | 1/9 |
6-161013013-T-C | LPA | c.3630-880A>G | - | IntronicSNV | - | 22/38 |
6-127440047-T-C | RSPO3 | c.1-291T>C | - | IntergenicSNV | 1/5 | - |
19-19396616-C-T | SUGP1 | c.1244-5516G>A | - | IntronicSNV | - | 8/13 |
9-107661742-A-C | ABCA1 | c.66+4153T>G | - | IntronicSNV | - | 2/49 |
1-155106697-G-A | EFNA1 | c.*154G>A | - | 3-UTRSNV | 5/5 | - |
1-40035928-G-T | PABPC4 | c.504-254C>A | - | IntronicSNV | - | 3/15 |
18-47109955-A-G | LIPG | c.1187A>G | p.N396S | Missense | 8/10 | - |
19-49206417-A-G | FUT2 | c.204A>G | p.A68= | Synonymous | 2/2 | - |
2-211540507-C-A | CPS1 | c.4217C>A | p.T1406N | Missense | 36/38 | - |
17-41926126-C-T | CD300LG | c.244C>T | p.R82C | Missense | 2/7 | - |
19-11350488-C-T | ANGPTL8 | c.175C>T | p.R59W | Missense | 1/4 | - |
9-107665978-C-A | ABCA1 | c.1-18G>T | - | 5-UTRSNV | 2/50 | - |
11-5248004-G-A | HBB | c.118C>T | p.Q40* | Nonsense | 2/3 | - |
19-11216243-G-A | LDLR | c.661G>A | p.D221N | Missense | 4/18 | - |
19-11224013-C-T | LDLR | c.1246C>T | p.R416W | Missense | 9/18 | - |
19-11216243-G-T | LDLR | c.661G>T | p.D221Y | Missense | 4/18 | - |
9-107665978-C-G | ABCA1 | c.1-18G>C | - | 5-UTRSNV | 2/50 | - |
9-107665978-C-T | ABCA1 | c.1-18G>A | - | 5-UTRSNV | 2/50 | - |
1-23398065-C-T | KDM1A | c.1548+213C>T | - | IntronicSNV | - | 13/20 |
11-61543499-T-C | MYRF | c.1312-29T>C | - | IntronicSNV | - | 8/26 |
7-6461310-C-T | DAGLB | c.1218+48G>A | - | IntronicSNV | - | 9/14 |
1-21904206-C-A | ALPL | c.*65C>A | - | 3-UTRSNV | 12/12 | - |
1-21904206-C-G | ALPL | c.*65C>G | - | 3-UTRSNV | 12/12 | - |
1-21904206-C-T | ALPL | c.*65C>T | - | 3-UTRSNV | 12/12 | - |
11-61582708-T-C | FADS1 | c.375+1319A>G | - | IntronicSNV | - | 1/11 |
10-113931690-C-T | GPAM | c.794+250G>A | - | IntronicSNV | - | 9/21 |
19-11242307-G-C | LDLR | c.*315G>C | - | 3-UTRSNV | 18/18 | - |
12-53295081-T-G | KRT8 | c.534-78A>C | - | IntronicSNV | - | 2/7 |
7-72907459-C-T | BAZ1B | c.572-208G>A | - | IntronicSNV | - | 4/19 |
2-27598097-T-C | SNX17 | c.774+77T>C | - | IntronicSNV | - | 9/14 |
1-21930542-C-G | RAP1GAP | c.1429-1136G>C | - | IntronicSNV | - | 18/24 |
20-44569930-C-T | PCIF1 | c.673+84C>T | - | IntronicSNV | - | 7/16 |
1-21930542-C-T | RAP1GAP | c.1429-1136G>A | - | IntronicSNV | - | 18/24 |
17-38066509-G-A | GSDMB | c.408-332C>T | - | IntronicSNV | - | 3/10 |
9-107665739-G-A | ABCA1 | c.66+156C>T | - | IntronicSNV | - | 2/49 |
10-113913552-A-T | GPAM | c.2371-128T>A | - | IntronicSNV | - | 21/21 |
4-3446883-A-G | HGFAC | c.1017-109A>G | - | IntronicSNV | - | 8/13 |
4-3443931-A-G | HGFAC | c.117+86A>G | - | IntronicSNV | - | 1/13 |
17-67082962-C-G | ABCA6 | c.3820-86G>C | - | IntronicSNV | - | 29/38 |
7-87079602-G-C | ABCB4 | c.709-194C>G | - | IntronicSNV | - | 7/27 |
16-57006829-T-A | CETP | c.751-414T>A | - | IntronicSNV | - | 8/15 |
19-11216617-G-A | LDLR | c.694+341G>A | - | IntronicSNV | - | 4/17 |
19-11216617-G-C | LDLR | c.694+341G>C | - | IntronicSNV | - | 4/17 |
19-11216617-G-T | LDLR | c.694+341G>T | - | IntronicSNV | - | 4/17 |
1-55590465-C-T | USP24 | c.3961-164G>A | - | IntronicSNV | - | 34/67 |
16-57010486-C-T | CETP | c.981+1423C>T | - | IntronicSNV | - | 10/15 |
16-57012887-G-A | CETP | c.1146+720G>A | - | IntronicSNV | - | 11/15 |
16-57006829-T-G | CETP | c.751-414T>G | - | IntronicSNV | - | 8/15 |
6-160997118-A-G | LPA | c.4631+1050T>C | - | IntronicSNV | - | 28/38 |
6-160997118-A-T | LPA | c.4631+1050T>A | - | IntronicSNV | - | 28/38 |
6-161008646-G-A | LPA | c.3948-984C>T | - | IntronicSNV | - | 24/38 |
6-161055671-A-G | LPA | c.1075+484T>C | - | IntronicSNV | - | 7/38 |
17-7080316-C-T | ASGR1 | c.267G>A | p.K89= | Synonymous | 4/9 | - |
8-145639726-T-C | SLC39A4 | c.1069A>G | p.T357A | Missense | 6/12 | - |
7-73020337-C-G | MLXIPL | c.723G>C | p.Q241H | Missense | 6/17 | - |
14-103576444-C-G | EXOC3L4 | c.2053C>G | p.Q685E | Missense | 11/11 | - |
8-145732180-G-C | GPT | c.1354G>C | p.V452L | Missense | 10/11 | - |
19-54675643-G-A | TMC4 | c.289C>T | p.H97Y | Missense | 2/15 | - |
2-21266774-GGCAGCGCCA-G | APOB | c.35_43delTGGCGCTGC | p.L12_L14del | InFrameDeletion | 1/29 | - |
4-100052733-C-A | ADH4 | c.765G>T | p.P255= | Synonymous | 6/9 | - |
19-19380513-A-G | TM6SF2 | c.467T>C | p.L156P | Missense | 5/10 | - |
6-24476431-T-C | GPLD1 | c.308A>G | p.N103S | Missense | 4/25 | - |
2-21236251-G-A | APOB | c.3997C>T | p.R1333* | Nonsense | 25/29 | - |
6-31935567-G-A | SKIV2L | c.2659G>A | p.D887N | Missense | 22/28 | - |
2-21230480-C-T | APOB | c.9260G>A | p.W3087* | Nonsense | 26/29 | - |
1-230304988-A-C | GALNT2 | c.127-8976A>C | - | IntronicSNV | - | 1/15 |
22-44324730-C-T | PNPLA3 | c.447C>T | p.P149= | Synonymous | 3/9 | - |
1-230304988-A-G | GALNT2 | c.127-8976A>G | - | IntronicSNV | - | 1/15 |
12-121419056-T-C | HNF1A | c.326+2159T>C | - | IntronicSNV | - | 1/9 |
11-47246397-G-A | DDB2 | c.456+7797G>A | - | IntronicSNV | - | 3/9 |
11-47246397-G-C | DDB2 | c.456+7797G>C | - | IntronicSNV | - | 3/9 |
11-47246397-G-T | DDB2 | c.456+7797G>T | - | IntronicSNV | - | 3/9 |
8-19806631-T-C | LPL | c.249+780T>C | - | IntronicSNV | - | 2/9 |
1-21786068-C-T | NBPF3 | c.134-9113C>T | - | IntronicSNV | - | 2/14 |
1-55519174-G-A | PCSK9 | c.799+710G>A | - | IntronicSNV | - | 5/11 |
1-55519174-G-C | PCSK9 | c.799+710G>C | - | IntronicSNV | - | 5/11 |
11-61603510-C-A | FADS2 | c.208-1740C>A | - | IntronicSNV | - | 1/11 |
11-61603510-C-T | FADS2 | c.208-1740C>T | - | IntronicSNV | - | 1/11 |
1-109817192-A-G | CELSR2 | c.*521A>G | - | 3-UTRSNV | 34/34 | - |
9-107647019-C-T | ABCA1 | c.161-170G>A | - | IntronicSNV | - | 3/49 |
7-44580876-G-A | NPC1L1 | c.1-18C>T | - | 5-UTRSNV | 1/19 | - |
7-44580876-G-T | NPC1L1 | c.1-18C>A | - | 5-UTRSNV | 1/19 | - |
1-62903547-C-T | USP1 | c.-70+476C>T | - | intron_variant | - | 1/8 |
11-116701354-G-A | APOC3 | c.55+1G>A | - | IntronicSNV | - | 2/3 |
19-19336608-C-T | NCAN | c.1072+529C>T | - | IntronicSNV | - | 6/14 |
1-110470764-G-A | CSF1 | c.*14-710G>A | - | intron_variant | - | 8/8 |
19-54677189-C-T | MBOAT7 | c.*549G>A | - | 3-UTRSNV | 8/8 | - |
19-11231203-G-A | LDLR | c.2140+5G>A | - | IntronicSNV | - | 14/17 |
11-63877163-C-T | FLRT1 | c.-50+5510C>T | - | intron_variant | - | 2/2 |
11-61567753-C-A | FADS1 | c.*2130G>T | - | 3-UTRSNV | 12/12 | - |
12-125325010-C-G | SCARB1 | c.127-22757G>C | - | IntronicSNV | - | 1/12 |
5-52193125-A-G | ITGA1 | c.1091-161A>G | - | IntronicSNV | - | 9/28 |
1-21889760-G-A | ALPL | c.455G>A | p.R152H | Missense | 5/12 | - |
1-55512267-C-A | PCSK9 | c.471C>A | p.N157K | Missense | 3/12 | - |
9-107556776-T-G | ABCA1 | c.5398A>C | p.N1800H | Missense | 40/50 | - |
1-21890636-T-C | ALPL | c.575T>C | p.M192T | Missense | 6/12 | - |
1-21889741-G-A | ALPL | c.436G>A | p.E146K | Missense | 5/12 | - |
1-159683814-G-A | CRP | c.176C>T | p.T59M | Missense | 2/2 | - |
18-47109955-A-C | LIPG | c.1187A>C | p.N396T | Missense | 8/10 | - |
2-44075483-T-C | ABCG8 | c.322+2033T>C | - | IntronicSNV | - | 3/12 |
17-67081278-A-G | ABCA6 | c.4075T>C | p.C1359R | Missense | 32/39 | - |
11-126242372-C-T | ST3GAL4 | c.-61+16635C>T | - | intron_variant | - | 1/10 |
12-111718231-C-A | CUX2 | c.302-10991C>A | - | IntronicSNV | - | 4/21 |
12-111718231-C-T | CUX2 | c.302-10991C>T | - | IntronicSNV | - | 4/21 |
19-45448465-T-G | APOC4 | c.287T>G | p.L96R | Missense | 3/3 | - |
19-11346550-C-A | DOCK6 | c.2393-115G>T | - | IntronicSNV | - | 20/47 |
19-11346550-C-G | DOCK6 | c.2393-115G>C | - | IntronicSNV | - | 20/47 |
19-11346550-C-T | DOCK6 | c.2393-115G>A | - | IntronicSNV | - | 20/47 |
1-27284913-C-A | KDF1 | c.-33+1928G>T | - | intron_variant | - | 1/3 |
1-27284913-C-T | KDF1 | c.-33+1928G>A | - | intron_variant | - | 1/3 |
9-131466489-G-T | PKN3 | c.25-1093G>T | - | IntronicSNV | - | 1/21 |
8-19819724-C-A | LPL | c.1421C>A | p.S474* | Nonsense | 9/10 | - |
16-72144174-T-C | DHX38 | c.3478-681T>C | - | IntronicSNV | - | 25/26 |
16-72144174-T-G | DHX38 | c.3478-681T>G | - | IntronicSNV | - | 25/26 |
10-101912194-C-T | ERLIN1 | c.826-85G>A | - | IntronicSNV | - | 10/10 |
1-21890632-G-C | ALPL | c.571G>C | p.E191Q | Missense | 6/12 | - |
1-230297136-C-T | GALNT2 | c.127-16828C>T | - | IntronicSNV | - | 1/15 |
15-60878030-G-A | RORA | c.197-53980C>T | - | IntronicSNV | - | 2/10 |
22-44340904-C-G | PNPLA3 | c.1217+229C>G | - | IntronicSNV | - | 8/8 |
22-44340904-C-T | PNPLA3 | c.1217+229C>T | - | IntronicSNV | - | 8/8 |
11-61596633-C-T | FADS2 | c.207+564C>T | - | IntronicSNV | - | 1/11 |
10-101924418-T-C | ERLIN1 | c.564-566A>G | - | IntronicSNV | - | 7/10 |
7-6461310-C-G | DAGLB | c.1218+48G>C | - | IntronicSNV | - | 9/14 |
7-127014438-T-C | ZNF800 | c.952A>G | p.I318V | Missense | 5/6 | - |
6-24463020-G-C | GPLD1 | c.825C>G | p.D275E | Missense | 11/25 | - |
14-73011885-A-G | RGS6 | c.1422+5083A>G | - | IntronicSNV | - | 17/17 |
15-58855748-C-T | LIPC | c.1214C>T | p.T405M | Missense | 8/9 | - |
16-53798622-G-T | FTO | c.46-45430G>T | - | IntronicSNV | - | 1/8 |
4-3443931-A-T | HGFAC | c.117+86A>T | - | IntronicSNV | - | 1/13 |
17-36073320-C-A | HNF1B | c.1046-2649G>T | - | IntronicSNV | - | 4/8 |
17-36073320-C-T | HNF1B | c.1046-2649G>A | - | IntronicSNV | - | 4/8 |
2-169853178-A-C | ABCB11 | c.444T>G | p.I148M | Missense | 6/28 | - |
11-118488782-A-C | PHLDB1 | c.355+1856A>C | - | IntronicSNV | - | 4/22 |
4-77416627-A-G | SHROOM3 | c.168+59254A>G | - | IntronicSNV | - | 1/10 |
4-77416627-A-T | SHROOM3 | c.168+59254A>T | - | IntronicSNV | - | 1/10 |
13-95256305-T-C | GPR180 | c.146-1340T>C | - | IntronicSNV | - | 1/8 |
13-95256305-T-G | GPR180 | c.146-1340T>G | - | IntronicSNV | - | 1/8 |
8-71108548-T-A | NCOA2 | c.259+17590A>T | - | IntronicSNV | - | 4/22 |
8-71108548-T-C | NCOA2 | c.259+17590A>G | - | IntronicSNV | - | 4/22 |
12-570840-G-A | B4GALNT3 | c.169+1129G>A | - | IntronicSNV | - | 1/19 |
12-570840-G-C | B4GALNT3 | c.169+1129G>C | - | IntronicSNV | - | 1/19 |
3-149212268-G-A | TM4SF4 | c.402-4241G>A | - | IntronicSNV | - | 3/4 |
7-106914944-T-C | COG5 | c.1575+6801A>G | - | intron_variant | - | 14/21 |
11-8826071-G-A | ST5 | c.-26+5993C>T | - | intron_variant | - | 1/19 |
3-170729414-G-A | SLC2A2 | c.372-1543C>T | - | IntronicSNV | - | 3/10 |
19-47435471-G-A | ARHGAP35 | c.3682-5050G>A | - | IntronicSNV | - | 2/6 |
3-149212076-A-G | TM4SF4 | c.402-4433A>G | - | IntronicSNV | - | 3/4 |
5-156743083-G-A | CYFIP2 | c.1356+981G>A | - | IntronicSNV | - | 13/30 |
5-156743083-G-C | CYFIP2 | c.1356+981G>C | - | IntronicSNV | - | 13/30 |
7-97826232-G-A | LMTK2 | c.4107+2348G>A | - | IntronicSNV | - | 11/13 |
1-154418415-T-C | IL6R | c.950-2186T>C | - | IntronicSNV | - | 6/9 |
10-101132282-A-C | CNNM1 | c.2177-4530A>C | - | IntronicSNV | - | 6/10 |
2-169834370-G-A | ABCB11 | c.1198-1173C>T | - | IntronicSNV | - | 11/27 |
22-18450609-G-A | MICAL3 | c.-75+56438C>T | - | intron_variant | - | 1/31 |
2-192121467-G-A | MYO1B | c.-10+11115G>A | - | intron_variant | - | 1/30 |
10-52642516-G-A | A1CF | c.-94+2825C>T | - | intron_variant | - | 1/12 |
10-52642516-G-T | A1CF | c.-94+2825C>A | - | intron_variant | - | 1/12 |
15-73982336-C-T | CD276 | c.-55+5535C>T | - | intron_variant | - | 1/9 |
10-74692646-T-C | OIT3 | c.*364T>C | - | 3-UTRSNV | 9/9 | - |
X-14893175-G-A | MOSPD2 | c.79+1295G>A | - | IntronicSNV | - | 2/14 |
3-32568632-G-A | DYNC1LI1 | c.1463-232C>T | - | IntronicSNV | - | 12/12 |
10-94783777-C-G | EXOC6 | c.2169+9753C>G | - | IntronicSNV | - | 20/21 |
17-76387363-G-T | PGS1 | c.144-1194G>T | - | IntronicSNV | - | 1/9 |
2-158481992-A-G | ACVR1C | c.73+3092T>C | - | IntronicSNV | - | 1/8 |
16-76458533-G-A | CNTNAP4 | c.388-2816G>A | - | intron_variant | - | 4/24 |
2-24569241-T-C | ITSN2 | c.-34+13932A>G | - | intron_variant | - | 1/39 |
8-116658583-G-T | TRPS1 | c.-122+22189C>A | - | intron_variant | - | 1/6 |
3-12374332-C-G | PPARG | c.-9+20380C>G | - | intron_variant | - | 2/7 |
16-72097827-C-A | HPR | c.5+668C>A | - | IntronicSNV | - | 1/4 |
16-72097827-C-T | HPR | c.5+668C>T | - | IntronicSNV | - | 1/4 |
19-50000009-G-A | RPS11 | c.15+281G>A | - | IntronicSNV | - | 1/4 |
17-45737275-A-T | KPNB1 | c.637-1210A>T | - | IntronicSNV | - | 5/21 |
11-18653712-A-G | SPTY2D1 | c.60+2033T>C | - | IntronicSNV | - | 1/5 |
10-74665524-G-T | OIT3 | c.545-830G>T | - | IntronicSNV | - | 3/8 |
12-125338529-C-T | SCARB1 | c.126+9612G>A | - | IntronicSNV | - | 1/12 |
16-88551082-A-G | ZFPM1 | c.41-1265A>G | - | IntronicSNV | - | 1/9 |
12-623425-G-A | B4GALNT3 | c.170-20907G>A | - | IntronicSNV | - | 1/19 |
12-623425-G-C | B4GALNT3 | c.170-20907G>C | - | IntronicSNV | - | 1/19 |
11-126227723-G-T | ST3GAL4 | c.-61+1986G>T | - | intron_variant | - | 1/10 |
6-24432550-G-A | GPLD1 | c.2436+865C>T | - | IntronicSNV | - | 24/24 |
10-18196764-T-C | MRC1 | c.4078+137T>C | - | IntronicSNV | - | 28/29 |
1-21934326-A-C | RAP1GAP | c.1296+380T>G | - | IntronicSNV | - | 17/24 |
1-21894465-C-T | ALPL | c.649-132C>T | - | IntronicSNV | - | 6/11 |
16-57010519-G-T | CETP | c.981+1456G>T | - | IntronicSNV | - | 10/15 |
1-21866564-G-A | ALPL | c.1-14011G>A | - | IntronicSNV | - | 1/11 |
8-145625366-C-G | CPSF1 | c.1031+16G>C | - | IntronicSNV | - | 10/37 |
8-145625366-C-T | CPSF1 | c.1031+16G>A | - | IntronicSNV | - | 10/37 |
1-21899052-C-G | ALPL | c.863-1106C>G | - | IntronicSNV | - | 8/11 |
1-21899052-C-T | ALPL | c.863-1106C>T | - | IntronicSNV | - | 8/11 |
16-67732186-C-T | GFOD2 | c.1-12568G>A | - | IntronicSNV | - | 1/2 |
9-107669241-T-C | ABCA1 | c.1-3281A>G | - | IntronicSNV | - | 1/49 |
8-126445055-G-A | TRIB1 | c.361-504G>A | - | IntronicSNV | - | 1/2 |
19-11168029-T-C | SMARCA4 | c.4425-902T>C | - | IntronicSNV | - | 30/34 |
19-7919179-A-G | EVI5L | c.1146+960A>G | - | IntronicSNV | - | 10/19 |
4-69338311-A-G | TMPRSS11E | c.490+970A>G | - | IntronicSNV | - | 5/9 |
2-118846970-T-G | INSIG2 | c.-139+853T>G | - | intron_variant | - | 1/5 |
13-27183305-A-C | WASF3 | c.-108-3793A>C | - | intron_variant | - | 1/9 |
7-44242340-T-C | YKT6 | c.104+1502T>C | - | IntronicSNV | - | 1/6 |
1-27180088-A-C | ZDHHC18 | c.1050-129A>C | - | IntronicSNV | - | 7/7 |
8-116601022-T-C | TRPS1 | c.2097-1191A>G | - | IntronicSNV | - | 4/6 |
3-136103267-C-G | STAG1 | c.2278-6673G>C | - | IntronicSNV | - | 22/33 |
3-136103267-C-T | STAG1 | c.2278-6673G>A | - | IntronicSNV | - | 22/33 |
4-170473103-G-A | NEK1 | c.1562+3768C>T | - | IntronicSNV | - | 18/35 |
1-40033905-G-A | PABPC4 | c.877-387C>T | - | IntronicSNV | - | 6/15 |
12-133435548-A-G | CHFR | c.911+106T>C | - | IntronicSNV | - | 8/17 |
1-200871809-C-T | C1orf106 | c.520+1522C>T | - | IntronicSNV | - | 5/9 |
19-58647516-T-G | ZNF329 | c.-9+6408A>C | - | intron_variant | - | 3/3 |
11-126250680-G-A | ST3GAL4 | c.-61+24943G>A | - | intron_variant | - | 1/10 |
16-81537760-C-A | CMIP | c.300+58614C>A | - | IntronicSNV | - | 1/20 |
16-81537760-C-G | CMIP | c.300+58614C>G | - | IntronicSNV | - | 1/20 |
16-81537760-C-T | CMIP | c.300+58614C>T | - | IntronicSNV | - | 1/20 |
10-60500970-T-C | BICC1 | c.307+39067T>C | - | IntronicSNV | - | 3/20 |
3-149194337-C-G | TM4SF4 | c.264+638C>G | - | IntronicSNV | - | 2/4 |
12-121424406-G-A | HNF1A | c.327-2230G>A | - | IntronicSNV | - | 1/9 |
19-34218550-C-G | CHST8 | c.130+38253C>G | - | IntronicSNV | - | 3/4 |
11-84172538-T-C | DLG2 | c.519+73075A>G | - | IntronicSNV | - | 7/27 |
4-1016707-C-T | FGFRL1 | c.352+444C>T | - | IntronicSNV | - | 3/6 |
20-44589970-C-T | ZNF335 | c.1647-449G>A | - | IntronicSNV | - | 10/27 |
22-18451554-G-A | MICAL3 | c.-75+55493C>T | - | intron_variant | - | 1/31 |
2-192112652-A-G | MYO1B | c.-10+2300A>G | - | intron_variant | - | 1/30 |
6-158484904-G-C | SYNJ2 | c.1209G>C | p.E403D | Missense | 9/27 | - |
6-24472814-G-A | GPLD1 | c.541C>T | p.R181C | Missense | 7/25 | - |
6-24450108-G-A | GPLD1 | c.1355C>T | p.S452L | Missense | 15/25 | - |
6-24460508-G-A | GPLD1 | c.1007C>T | p.P336L | Missense | 12/25 | - |
16-57007296-G-T | CETP | c.804G>T | p.S268= | Synonymous | 9/16 | - |
16-57007296-G-A | CETP | c.804G>A | p.S268= | Synonymous | 9/16 | - |
8-145730401-G-A | GPT | c.382G>A | p.G128S | Missense | 4/11 | - |
16-57007361-T-C | CETP | c.869T>C | p.L290P | Missense | 9/16 | - |
8-145730161-C-T | GPT | c.260C>T | p.A87V | Missense | 3/11 | - |
17-6380513-C-T | PITPNM3 | c.921G>A | p.E307= | Synonymous | 9/20 | - |
15-58855765-G-C | LIPC | c.1231G>C | p.G411R | Missense | 8/9 | - |
2-21234303-T-A | APOB | c.5437A>T | p.K1813* | Nonsense | 26/29 | - |
8-145730834-C-T | GPT | c.701C>T | p.P234L | Missense | 5/11 | - |
19-10334812-T-C | S1PR2 | c.770A>G | p.Y257C | Missense | 2/2 | - |
19-37038193-T-A | ZNF529 | c.1267A>T | p.K423* | Nonsense | 5/5 | - |
17-7291953-G-T | TNK1 | c.1706G>T | p.G569V | Missense | 11/13 | - |
19-11230876-A-G | LDLR | c.1954A>G | p.M652V | Missense | 13/18 | - |
11-64112050-C-A | CCDC88B | c.2037C>A | p.A679= | Synonymous | 14/27 | - |
11-64112050-C-T | CCDC88B | c.2037C>T | p.A679= | Synonymous | 14/27 | - |
12-112158966-T-G | ACAD10 | c.993-509T>G | - | IntronicSNV | - | 7/20 |
12-121423659-A-G | HNF1A | c.327-2977A>G | - | IntronicSNV | - | 1/9 |
10-79680514-C-A | DLG5 | c.304+5461G>T | - | IntronicSNV | - | 1/31 |
8-103662852-T-C | KLF10 | c.1184-233A>G | - | IntronicSNV | - | 3/3 |
4-110709275-C-T | CFI | c.57+13796G>A | - | IntronicSNV | - | 1/12 |
11-108436854-A-G | EXPH5 | c.120-24315T>C | - | IntronicSNV | - | 1/5 |
10-98460581-G-A | PIK3AP1 | c.430+8743C>T | - | IntronicSNV | - | 2/16 |
6-38108844-C-CG | ZFAND3 | c.530-11163_530-11163dup | - | IntronicInsertion | - | 5/5 |
7-28183448-T-C | JAZF1 | c.115+36634A>G | - | IntronicSNV | - | 1/4 |
2-233520254-A-T | EFHD1 | c.303-7258A>T | - | IntronicSNV | - | 1/3 |
12-112158966-T-C | ACAD10 | c.993-509T>C | - | IntronicSNV | - | 7/20 |
3-78790555-T-A | ROBO1 | c.657+5338A>T | - | IntronicSNV | - | 5/30 |
15-39907870-A-C | FSIP1 | c.1699+2066T>G | - | IntronicSNV | - | 11/11 |
15-39907870-A-G | FSIP1 | c.1699+2066T>C | - | IntronicSNV | - | 11/11 |
15-39907870-A-T | FSIP1 | c.1699+2066T>A | - | IntronicSNV | - | 11/11 |
11-93913692-T-A | PANX1 | c.1202-264T>A | - | IntronicSNV | - | 4/4 |
11-93913692-T-C | PANX1 | c.1202-264T>C | - | IntronicSNV | - | 4/4 |
16-58764855-C-A | GOT2 | c.89+3189G>T | - | IntronicSNV | - | 1/9 |
17-73175294-T-C | SUMO2 | c.153+1858A>G | - | IntronicSNV | - | 2/3 |
4-69973667-C-G | UGT2B7 | c.1091-154C>G | - | IntronicSNV | - | 4/5 |
12-125584779-C-T | AACS | c.571-2446C>T | - | IntronicSNV | - | 5/17 |
9-33117965-C-T | B4GALT1 | c.837-1854G>A | - | IntronicSNV | - | 3/5 |
10-74692646-T-G | OIT3 | c.*364T>G | - | 3-UTRSNV | 9/9 | - |
11-63881144-T-A | FLRT1 | c.1-2596T>A | - | IntronicSNV | - | 1/2 |
11-63881144-T-C | FLRT1 | c.1-2596T>C | - | IntronicSNV | - | 1/2 |
18-47118923-T-G | LIPG | c.*2031T>G | - | 3-UTRSNV | 10/10 | - |
22-21964761-G-A | UBE2L3 | c.124-385G>A | - | IntronicSNV | - | 2/3 |
1-25779236-T-G | TMEM57 | c.350-1514T>G | - | IntronicSNV | - | 3/10 |
8-116563879-A-C | TRPS1 | c.2700+35349T>G | - | IntronicSNV | - | 5/6 |
7-72991592-T-A | TBL2 | c.130+1158A>T | - | IntronicSNV | - | 1/6 |
7-72991592-T-C | TBL2 | c.130+1158A>G | - | IntronicSNV | - | 1/6 |
7-21605973-A-G | DNAH11 | c.1194+1958A>G | - | IntronicSNV | - | 6/81 |
4-69319692-A-G | TMPRSS11E | c.11+6451A>G | - | IntronicSNV | - | 1/9 |
12-109939641-T-A | UBE3B | c.1282+302T>A | - | IntronicSNV | - | 13/27 |
6-101308421-T-A | ASCC3 | c.241+3519A>T | - | IntronicSNV | - | 3/41 |
6-101308421-T-C | ASCC3 | c.241+3519A>G | - | IntronicSNV | - | 3/41 |
17-65957568-A-G | BPTF | c.8261+1577A>G | - | IntronicSNV | - | 24/27 |
10-64988931-A-T | JMJD1C | c.448-9188T>A | - | IntronicSNV | - | 3/25 |
6-24416482-A-C | MRS2 | c.720-143A>C | - | IntronicSNV | - | 6/10 |
6-24416482-A-G | MRS2 | c.720-143A>G | - | IntronicSNV | - | 6/10 |
6-24416482-A-T | MRS2 | c.720-143A>T | - | IntronicSNV | - | 6/10 |
1-21885982-A-G | ALPL | c.62-1137A>G | - | IntronicSNV | - | 2/11 |
12-125264293-G-A | SCARB1 | c.*1-1161C>T | - | intron_variant | - | 12/12 |
12-125264293-G-C | SCARB1 | c.*1-1161C>G | - | intron_variant | - | 12/12 |
1-55520938-G-A | PCSK9 | c.800-728G>A | - | IntronicSNV | - | 5/11 |
9-107563603-T-C | ABCA1 | c.4698+732A>G | - | IntronicSNV | - | 34/49 |
1-55676748-C-T | USP24 | c.324+3715G>A | - | IntronicSNV | - | 1/67 |
2-44069772-G-A | ABCG8 | c.64-1874G>A | - | IntronicSNV | - | 1/12 |
11-116619605-G-A | BUD13 | c.1767-314C>T | - | IntronicSNV | - | 9/9 |
19-11336444-C-T | DOCK6 | c.2955+1569G>A | - | IntronicSNV | - | 24/47 |
19-19458388-A-G | MAU2 | c.1308+213A>G | - | IntronicSNV | - | 13/18 |
9-107620797-A-G | ABCA1 | c.720+6T>C | - | IntronicSNV | - | 7/49 |
2-44008987-C-T | DYNC2LI1 | c.127-1672C>T | - | IntronicSNV | - | 2/12 |
10-95168448-T-C | MYOF | c.729+96A>G | - | IntronicSNV | - | 7/53 |
9-136149711-A-T | ABO | c.28+867T>A | - | IntronicSNV | - | 1/7 |
5-156387137-G-C | TIMD4 | c.58+3015C>G | - | IntronicSNV | - | 1/8 |
7-37142972-G-C | ELMO1 | c.1192-6640C>G | - | IntronicSNV | - | 14/21 |
6-24480556-G-GT | GPLD1 | c.154-370_154-370dup | - | IntronicInsertion | - | 2/24 |
1-230300481-C-G | GALNT2 | c.127-13483C>G | - | IntronicSNV | - | 1/15 |
1-230300481-C-T | GALNT2 | c.127-13483C>T | - | IntronicSNV | - | 1/15 |
7-21589243-A-C | DNAH11 | c.495+4476A>C | - | IntronicSNV | - | 2/81 |
7-21589243-A-G | DNAH11 | c.495+4476A>G | - | IntronicSNV | - | 2/81 |
9-19631061-T-A | SLC24A2 | c.931-8764A>T | - | IntronicSNV | - | 2/10 |
11-126250680-G-T | ST3GAL4 | c.-61+24943G>T | - | intron_variant | - | 1/10 |
7-28053777-T-C | JAZF1 | c.116-22177A>G | - | IntronicSNV | - | 1/4 |
11-63843031-C-T | FLRT1 | c.-1037-27635C>T | - | intron_variant | - | 1/2 |
11-62301396-T-C | AHNAK | c.493A>G | p.T165A | Missense | 5/5 | - |
9-6610328-C-T | GLDC | c.499G>A | p.E167K | Missense | 4/25 | - |
22-44342236-AGT-TGA | PNPLA3 | c.1420_1422delAGTinsTGA | p.S474* | Nonsense | 9/9 | - |
19-58639918-T-C | ZNF329 | c.953A>G | p.N318S | Missense | 4/4 | - |
15-58838103-A-ACG | LIPC | c.738_739dup | p.G247Afs*12 | Frameshift | 5/9 | - |
6-160555041-G-T | SLC22A1 | c.723G>T | p.Q241H | Missense | 4/11 | - |
6-160555041-G-C | SLC22A1 | c.723G>C | p.Q241H | Missense | 4/11 | - |
6-24450123-G-T | GPLD1 | c.1340C>A | p.S447* | Nonsense | 15/25 | - |
6-24450123-G-C | GPLD1 | c.1340C>G | p.S447* | Nonsense | 15/25 | - |
2-21265267-G-T | APOB | c.203C>A | p.A68D | Missense | 3/29 | - |